Novel features in auriculo-condylar syndrome

Abstract

Auriculo-condylar syndrome (ACS, OMIM 602483) is an autosomal dominant condition with marked phenotypic variability. In some patients, the condition may be limited to the auricular deformity which can vary from auricular cleft, cupped helix to the 'question mark' ear, where there is constriction between the middle and lower thirds of the ear. The latter has also been reported in isolation. Other clinical features are; facial asymmetry, round faces with prominent cheeks, microstomia, micrognathia, dental malocclusion and hearing loss. Radiological findings include abnormalities of the temporomandibular joint and/or the mandibular condyle. We describe nine ACS patients (five familial, four singleton) with novel clinical signs including facial clefts, pre-auricular and cheek pits further delineating the features of this highly variable condition. Delayed diagnosis is a common feature suggesting that ACS is largely unrecognized and may be more common than the literature suggests.